Disease ID | Disease name | Source of annotation with OPTN | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS105400 | AMYOTROPHIC LATERAL SCLEROSIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 27 | CHCHD10, FIG4, ERBB4, SQSTM1, ATXN2, UBQLN2, DCTN1, FUS, NEFH, PFN1, VAPB, MATR3, ALS2, TBK1, SPG11, TARDBP, TUBA4A, SIGMAR1, SOD1, CHMP2B, PRPH, ANG, VCP, OPTN, C9orf72, HNRNPA1, SETX |
606657 | GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO | ClinVar, OMIM | link to OMIM | 2 | OPTN, OPA1 |
137760 | GLAUCOMA, PRIMARY OPEN ANGLE | OMIM, HUMSAVAR | link to OMIM | 3 | LTBP2, OPTN, CYP1B1 |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Cell Cycle | R-HSA-1640170 | 3.89 |
Regulation of PLK1 Activity at G2/M Transition | R-HSA-2565942 | 6.66 |
Cell Cycle, Mitotic | R-HSA-69278 | 4.16 |
Mitotic G2-G2/M phases | R-HSA-453274 | 6.04 |
G2/M Transition | R-HSA-69275 | 6.06 |
GO term | GO ID | GO IC |
---|---|---|
protein binding, bridging | GO:0030674 | 4.68 |
protein C-terminus binding | GO:0008022 | 4.5 |
ubiquitin-like protein binding | GO:0032182 | 4.93 |
Rab GTPase binding | GO:0017137 | 4.96 |
enzyme binding | GO:0019899 | 2.27 |
Ras GTPase binding | GO:0017016 | 4.2 |
small GTPase binding | GO:0031267 | 4.13 |
GTPase binding | GO:0051020 | 4.05 |
ubiquitin binding | GO:0043130 | 5.09 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
polyubiquitin binding | GO:0031593 | 5.98 |
K63-linked polyubiquitin binding | GO:0070530 | 6.79 |
identical protein binding | GO:0042802 | 2.63 |
binding, bridging | GO:0060090 | 4.57 |